Elsayed_2016_Egyptian.J.Med.Hum.Genet_17_277

Abstract Background: Familial hemophagocytic lymphohistiocytosis is a rare autosomal recessive disease that is usually evident in the first few months or years of life. Major signs and symptoms include hepatomegaly, splenomegaly, anemia, leucopenia or thrombocytopenias which resemble many inborn errors of metabolism and lysosomal storage diseases in which hemophagocytic lymphohistiocytosis has also been reported as a secondary association. Case reports: We report three children with hemophagocytic lymphohistiocytosis for whom mutation screening for the known four genes of FHL ((PRF1 (FHL2), UNC13D (FHL3), STX11 (FHL4), and STXBP2 (FHL5)) revealed no mutation, while sequencing of the LIPA gene confirmed the diagnosis of Wolman disease. Peculiar characteristics of these patients included absence of prominent fever, huge hepatomegaly and a severe failure to thrive. Conclusion: Wolman disease should be excluded in patients with clinical and laboratory characteristics of FHL and negative molecular testing especially if the fever is not prominent and is associated with relatively huge hepatomegaly and/or severe failure to thrive.